A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10478252



Internal ID6613650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42114573..42132784hg38UCSC Ensembl
Innerchr2:42115073..42132284hg38UCSC Ensembl
Outerchr2:42113573..42133784hg38UCSC Ensembl
chr2:42341713..42359924hg19UCSC Ensembl
Innerchr2:42342213..42359424hg19UCSC Ensembl
Outerchr2:42340713..42360924hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3818212
hg1918212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590497
Supporting Variants
SamplesNA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10478252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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